Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86954638_86954964del , CM000673.2:g.86954638_86954964del | GRCh38 |
| NC_000011.9:g.86665680_86666006del , CM000673.1:g.86665680_86666006del | GRCh37 |
| NC_000011.8:g.86343328_86343654del | NCBI36 |
| NG_011752.1:g.5430_5756del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000531380.2:c.124_285+165del | ||
| ENST00000531380.1:c.124_285+165del | ||
| NM_012193.3:c.124_285+165del | ||
| NM_012193.4:c.124_285+165del |